HsaEX0046971 @ hg38
Exon Skipping
Gene
ENSG00000043143 | JADE2
Description
jade family PHD finger 2 [Source:HGNC Symbol;Acc:HGNC:22984]
Coordinates
chr5:134573645-134579474:+
Coord C1 exon
chr5:134573645-134573762
Coord A exon
chr5:134576768-134576896
Coord C2 exon
chr5:134578494-134579474
Length
129 bp
Sequences
Splice sites
3' ss Seq
TCTCACTTTCCCTGACACAGAGC
3' ss Score
6.93
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
GTTAGAAATCTGTGCTACATGGTGACAAGGCGCGAGAGAACGAAACACGCCATCTGCAAACTCCAGGAGCAGATATTCCACCTGCAGATGAAACTTATTGAACAGGATCTGTGTCGAG
Seq A exon
AGCGGTCTGGGAGGAGAGCAAAGGGCAAGAAGAGTGACTCGAAGAGGAAGGGCTGCGAGGGCTCCAAGGGCAGCACTGAGAAGAAAGAGAAAGTGAAGGCGGGGCCTGACTCAGTCCTGGGGCAGCTGG
Seq C2 exon
CAGGCCTGTCCACCTCATTCCCCATCGATGGCACCTTCTTCAACAGCTGGCTGGCACAGTCGGTGCAGATCACAGCAGAGAACATGGCCATGAGCGAGTGGCCACTGAACAATGGGCACCGCGAGGACCCTGCTCCAGGGCTGCTGTCAGAGGAACTGCTGCAGGACGAGGAGACACTGCTCAGCTTCATGCGGGACCCCTCGCTGCGACCTGGTGACCCTGCTAGGAAGGCCCGAGGCCGCACCCGCCTGCCTGCCAAGAAGAAACCACCACCACCACCACCGCAGGACGGGCCTGGTTCACGGACGACTCCAGACAAAGCCCCCAAGAAGACCTGGGGCCAGGATGCAGGCAGTGGCAAGGGGGGTCAAGGGCCACCTACCAGGAAGCCACCACGTCGGACATCTTCTCACTTGCCGTCCAGCCCTGCAGCCGGGGACTGTCCCATCCTAGCCACCCCTGAAAGCCCCCCGCCACTGGCCCCTGAGACCCCGGACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000043143-'37-33,'37-32,39-33=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.006 A=0.856 C2=0.905
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGAAACACGCCATCTGCAAAC
R:
CTGCAGCAGTTCCTCTGACAG
Band lengths:
242-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development