HsaEX0046975 @ hg38
Exon Skipping
Gene
ENSG00000077684 | JADE1
Description
jade family PHD finger 1 [Source:HGNC Symbol;Acc:HGNC:30027]
Coordinates
chr4:128855630-128864630:+
Coord C1 exon
chr4:128855630-128855797
Coord A exon
chr4:128857338-128857454
Coord C2 exon
chr4:128861704-128864630
Length
117 bp
Sequences
Splice sites
3' ss Seq
TGCTGTTTTCCGACCTTTAGGTG
3' ss Score
9.79
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
GCCTGTTATGGAATCCTCAAGGTACCAGAGGGCAGCTGGCTGTGCCGGACATGTGCCCTGGGGGTTCAGCCAAAATGTCTGCTGTGTCCGAAGAAGGGTGGAGCTATGAAGCCCACCCGTAGCGGAACCAAGTGGGTCCACGTTAGCTGTGCTCTGTGGATCCCTGAG
Seq A exon
GTGAGCATTGGCAGCCCAGAGAAGATGGAGCCCATCACCAAGGTGTCACACATTCCCAGCAGCCGGTGGGCGCTAGTGTGCAGCCTCTGCAATGAGAAGTTTGGGGCCTCTATACAG
Seq C2 exon
TGCTCTGTGAAGAACTGCCGCACAGCCTTCCATGTGACCTGTGCTTTTGACCGGGGCCTGGAGATGAAGACCATCTTAGCAGAGAATGATGAAGTCAAGTTCAAGTCCTATTGCCCAAAGCACAGCTCACATAGGAAACCCGAGGAGAGTCTTGGCAAGGGGGCTGCACAGGAGAATGGGGCCCCTGAGTGTTCCCCCCGGAATCCGCTGGAGCCCTTTGCCAGCCTTGAGCAGAACCGGGAGGAGGCCCACCGGGTGAGTGTCCGTAAGCAGAAGCTGCAGCAGTTGGAGGATGAGTTCTACACCTTCGTCAACCTGCTGGATGTTGCCAGGGCTCTGCGGCTGCCTGAGGAAGTAGTGGATTTCCTGTACCAGTACTGGAAGTTGAAGAGGAAGGTCAACTTCAACAAGCCCCTGATCACCCCAAAGAAAGATGAAGAGGACAATCTAGCCAAGCGGGAGCAGGATGTCTTATTTAGGAGGCTGCAGCTGTTCACGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077684_MULTIEX2-2/5=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.051 C2=0.231
Domain overlap (PFAM):
C1:
PF0013017=C1_1=PD(20.7=21.4),PF138311=PHD_2=PD(51.4=32.1),PF138321=zf-HC5HC2H_2=PU(28.3=57.1)
A:
PF138321=zf-HC5HC2H_2=FE(33.6=100),PF087466=zf-RING-like=PU(33.3=30.8)
C2:
PF138321=zf-HC5HC2H_2=PD(35.4=23.0),PF087466=zf-RING-like=PD(61.1=12.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGGGTTCAGCCAAAATGTC
R:
TATGTGAGCTGTGCTTTGGGC
Band lengths:
243-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development