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
ENST00000381192 [[2609219, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2659350]] [[2609401, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2658845]]
ENST00000381187 [[2609316, 2609468], [2632462, 2632495], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2659142]] [[2609401, 2609468], [2632462, 2632495], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2658845]]
ENST00000381184 [[2609320, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2645333, 2645384], [2651397, 2651708]] [[2609401, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2645333, 2645384], [2651397, 2651405]]
ENST00000482405 [[2609350, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2651397, 2651713]] None
ENST00000449611 [[2609540, 2609736], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414]] [[2609540, 2609736], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414]]
ENST00000381180 [[2609401, 2609468], [2609828, 2610291]] [[2609401, 2609468], [2609828, 2609992]]
ENST00000482293 [[2635414, 2635515], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644404]] None
ENST00000497752 [[2637108, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405]] None
ENST00000381177 [[2644381, 2644414], [2655921, 2656297], [2658819, 2659166]] [[2644381, 2644414], [2655921, 2656074]]
ENST00000381192 [[2559219, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2609350]] [[2559401, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2608845]]
ENST00000381187 [[2559316, 2559468], [2582462, 2582495], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2609142]] [[2559401, 2559468], [2582462, 2582495], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2608845]]
ENST00000381184 [[2559320, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2595333, 2595384], [2601397, 2601708]] [[2559401, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2595333, 2595384], [2601397, 2601405]]
ENST00000482405 [[2559350, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2601397, 2601713]] None
ENST00000381180 [[2559401, 2559468], [2559828, 2560291]] [[2559401, 2559468], [2559828, 2559992]]
ENST00000449611 [[2559540, 2559736], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414]] [[2559540, 2559736], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414]]
ENST00000482293 [[2585414, 2585515], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594404]] None
ENST00000497752 [[2587108, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405]] None
ENST00000381177 [[2594381, 2594414], [2605921, 2606297], [2608819, 2609166]] [[2594381, 2594414], [2605921, 2606074]]
NM_001321367 [[2609173, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2651397, 2654479]] [[2609401, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2651397, 2651405]]
NM_001321369 [[2609173, 2609468], [2632462, 2632495], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656243, 2656297], [2658819, 2659350]] [[2609401, 2609468], [2632462, 2632495], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656243, 2656297], [2658819, 2658845]]
NM_001122898 [[2609173, 2609468], [2632462, 2632495], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2659350]] [[2609401, 2609468], [2632462, 2632495], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2658845]]
NM_001321370 [[2609173, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2644300, 2644414], [2656240, 2656297], [2658819, 2659350]] [[2609401, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2644300, 2644414], [2656240, 2656297], [2658819, 2658845]]
NM_001321368 [[2609173, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656243, 2656297], [2658819, 2659350]] [[2609401, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656243, 2656297], [2658819, 2658845]]
NM_002414 [[2609173, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2659350]] [[2609401, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2656240, 2656297], [2658819, 2658845]]
NR_135623 [[2609173, 2609468], [2632462, 2632495], [2635645, 2635693], [2637701, 2637746], [2638396, 2638465], [2640667, 2640715], [2641354, 2641405], [2644300, 2644414], [2651397, 2651415], [2656243, 2656297], [2658819, 2659350]] None
NM_001321367 [[2559173, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2601397, 2604479]] [[2559401, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2601397, 2601405]]
NM_001321369 [[2559173, 2559468], [2582462, 2582495], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606243, 2606297], [2608819, 2609350]] [[2559401, 2559468], [2582462, 2582495], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606243, 2606297], [2608819, 2608845]]
NM_001122898 [[2559173, 2559468], [2582462, 2582495], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2609350]] [[2559401, 2559468], [2582462, 2582495], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2608845]]
NM_001321370 [[2559173, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2594300, 2594414], [2606240, 2606297], [2608819, 2609350]] [[2559401, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2594300, 2594414], [2606240, 2606297], [2608819, 2608845]]
NM_001321368 [[2559173, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606243, 2606297], [2608819, 2609350]] [[2559401, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606243, 2606297], [2608819, 2608845]]
NM_002414 [[2559173, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2609350]] [[2559401, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2606240, 2606297], [2608819, 2608845]]
NR_135623 [[2559173, 2559468], [2582462, 2582495], [2585645, 2585693], [2587701, 2587746], [2588396, 2588465], [2590667, 2590715], [2591354, 2591405], [2594300, 2594414], [2601397, 2601415], [2606243, 2606297], [2608819, 2609350]] None
Promoter
Chrom Start End Description
chrX 2609207 2609218 CAGE_peak_5_at_CD99_5end
chrX 2609234 2609263 CAGE_peak_4_at_CD99_5end
chrX 2609278 2609302 CAGE_peak_3_at_CD99_5end
chrX 2609325 2609345 CAGE_peak_2_at_CD99_5end
chrX 2609356 2609383 CAGE_peak_1_at_CD99_5end
chrX 2644330 2644344 CAGE_peak_6_at_CD99_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI002703 2703201 2711200 1.4 [{'connected_gene': 'ZBED1', 'score': 1.96}, {'connected_gene': 'CD99', 'score': 1.91}, {'connected_gene': 'DHRSX', 'score': 1.86}, {'connected_gene': 'ARSD', 'score': 1.56}, {'connected_gene': 'XG', 'score': 0.26}]
chrX GH0XI002767 2767013 2768201 0.89 [{'connected_gene': 'CD99', 'score': 1.34}, {'connected_gene': 'ZBED1', 'score': 1.34}, {'connected_gene': 'DHRSX', 'score': 1.26}, {'connected_gene': 'XG', 'score': 0.37}, {'connected_gene': 'GYG2', 'score': 0.21}]
chrX GH0XI002695 2695602 2698000 1.26 [{'connected_gene': 'CD99', 'score': 1.59}, {'connected_gene': 'ZBED1', 'score': 1.48}, {'connected_gene': 'DHRSX', 'score': 1.4}, {'connected_gene': 'XG', 'score': 0.22}]
chrX GH0XI002630 2630800 2631001 0.81 [{'connected_gene': 'CD99', 'score': 12.05}, {'connected_gene': 'LINC00102', 'score': 0.37}, {'connected_gene': 'CD99P1', 'score': 0.34}, {'connected_gene': 'GC0XP002664', 'score': 0.29}]
chrX GH0XI002631 2631200 2631601 0.82 [{'connected_gene': 'CD99', 'score': 12.07}, {'connected_gene': 'LINC00102', 'score': 0.37}, {'connected_gene': 'CD99P1', 'score': 0.34}, {'connected_gene': 'GC0XP002664', 'score': 0.29}]
chrX GH0XI002701 2701401 2701800 0.69 [{'connected_gene': 'CD99', 'score': 0.39}, {'connected_gene': 'XG', 'score': 0.23}]
chrX GH0XI002728 2728347 2729452 0.2 [{'connected_gene': 'CD99', 'score': 12.03}, {'connected_gene': 'XG', 'score': 0.34}]
chrX GH0XI002725 2725752 2726970 0.2 [{'connected_gene': 'CD99', 'score': 12.03}, {'connected_gene': 'XG', 'score': 0.31}]
chrX GH0XI002694 2694615 2695583 0.31 [{'connected_gene': 'CD99', 'score': 0.77}, {'connected_gene': 'XG', 'score': 0.22}]
chrX GH0XI002717 2717337 2717933 0.38 [{'connected_gene': 'CD99', 'score': 0.31}, {'connected_gene': 'XG', 'score': 0.29}]
chrX GH0XI002716 2716235 2717287 0.2 [{'connected_gene': 'CD99', 'score': 0.31}, {'connected_gene': 'XG', 'score': 0.28}]
chrX GH0XI002690 2690600 2692801 1.42 [{'connected_gene': 'CD99', 'score': 550.77}, {'connected_gene': 'XG', 'score': 0.21}]
chrX GH0XI002711 2711824 2716073 0.63 [{'connected_gene': 'CD99', 'score': 12.81}, {'connected_gene': 'XG', 'score': 0.28}]
chrX GH0XI002721 2721717 2724636 0.31 [{'connected_gene': 'CD99', 'score': 12.05}, {'connected_gene': 'XG', 'score': 0.31}]
chrX GH0XI002699 2699525 2700556 0.46 [{'connected_gene': 'CD99', 'score': 0.44}, {'connected_gene': 'XG', 'score': 0.23}]
chrX GH0XI002693 2693478 2694313 0.2 [{'connected_gene': 'CD99', 'score': 0.77}, {'connected_gene': 'XG', 'score': 0.22}]
chrX GH0XI002718 2718542 2720570 0.46 [{'connected_gene': 'CD99', 'score': 0.31}, {'connected_gene': 'XG', 'score': 0.29}]
chrX GH0XI002676 2676972 2678306 1.01 [{'connected_gene': 'CD99', 'score': 0.39}, {'connected_gene': 'GC0XP002664', 'score': 0.39}]
chrX GH0XI002679 2679397 2680066 0.65 [{'connected_gene': 'CD99', 'score': 0.39}, {'connected_gene': 'GC0XP002664', 'score': 0.37}]
chrX GH0XI002608 2608200 2611001 1.22 [{'connected_gene': 'CD99P1', 'score': 550.77}, {'connected_gene': 'MIR6089', 'score': 550.77}, {'connected_gene': 'CD99', 'score': 11.34}, {'connected_gene': 'LINC00102', 'score': 0.44}]
chrX GH0XI002734 2734742 2735697 0.38 [{'connected_gene': 'XG', 'score': 0.37}, {'connected_gene': 'CD99', 'score': 0.26}]
chrX GH0XI002732 2732139 2733218 0.43 [{'connected_gene': 'XG', 'score': 0.37}, {'connected_gene': 'CD99', 'score': 0.26}]
chrX GH0XI002663 2663806 2665703 0.49 [{'connected_gene': 'GC0XP002664', 'score': 550.77}, {'connected_gene': 'CD99', 'score': 12.58}]