HsaEX0046982 @ hg38
Exon Skipping
Gene
ENSG00000077684 | JADE1
Description
jade family PHD finger 1 [Source:HGNC Symbol;Acc:HGNC:30027]
Coordinates
chr4:128852057-128857454:+
Coord C1 exon
chr4:128852057-128852212
Coord A exon
chr4:128855630-128855797
Coord C2 exon
chr4:128857338-128857454
Length
168 bp
Sequences
Splice sites
3' ss Seq
GATGTGCCGTGGCATCACAGGCC
3' ss Score
5.05
5' ss Seq
GAGGTACGT
5' ss Score
10.2
Exon sequences
Seq C1 exon
GAATGCCTGAACTAGATGAATACACCATGGAGAGGGTCCTAGAGGAATTTGAGCAGCGATGCTACGACAATATGAATCATGCCATAGAGACTGAGGAAGGCCTGGGGATCGAATATGATGAAGATGTTGTCTGTGATGTCTGCCAGTCTCCTGATG
Seq A exon
GCCTGTTATGGAATCCTCAAGGTACCAGAGGGCAGCTGGCTGTGCCGGACATGTGCCCTGGGGGTTCAGCCAAAATGTCTGCTGTGTCCGAAGAAGGGTGGAGCTATGAAGCCCACCCGTAGCGGAACCAAGTGGGTCCACGTTAGCTGTGCTCTGTGGATCCCTGAG
Seq C2 exon
GTGAGCATTGGCAGCCCAGAGAAGATGGAGCCCATCACCAAGGTGTCACACATTCCCAGCAGCCGGTGGGCGCTAGTGTGCAGCCTCTGCAATGAGAAGTTTGGGGCCTCTATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077684_MULTIEX2-1/5=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=0.000 C2=0.051
Domain overlap (PFAM):
C1:
PF105134=EPL1=PD(12.4=26.8),PF0013017=C1_1=PU(75.9=62.0),PF138311=PHD_2=PU(42.9=21.1)
A:
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)
C2:
PF138321=zf-HC5HC2H_2=FE(33.6=100),PF087466=zf-RING-like=PU(33.3=30.8)
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:
TGAATACACCATGGAGAGGGTC
R:
AGGCCCCAAACTTCTCATTGC
Band lengths:
249-417
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