Special

HsaEX1018140 @ hg38

Exon Skipping

Gene
Description
jade family PHD finger 1 [Source:HGNC Symbol;Acc:HGNC:30027]
Coordinates
chr4:128831733-128843038:+
Coord C1 exon
chr4:128831733-128831810
Coord A exon
chr4:128842730-128842856
Coord C2 exon
chr4:128842953-128843038
Length
127 bp
Sequences
Splice sites
3' ss Seq
GGGTGTGGTCCTTGATACAGCAT
3' ss Score
4.6
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GCTGCCTGCTGTTTCCCGGGGAGATCATGAAACGAGGTCGCCTTCCCAGCAGCAGTGAGGATTCTGACGACAATGGCA
Seq A exon
CATCCCTGCACAGAATGAGCACATTAGGCCTGCTTATGAGAGGTGAGAGTTAAATAACTGATGGACGTGGAAGAGCTCTGTGAGAGCCAGGAGGGCATCACAGGTGGTCTCATGGTGCAGTGCTGAG
Seq C2 exon
GCCTGTCAACTACTTGGTCCCAGAATTCCCGATCCCAGCATAGGAGAAGCTCCTGCTCCAGACATGAAGATCGAAAGCCTTCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077684_MULTIEX1-2/4=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=1.000 C2=0.944
Domain overlap (PFAM):

C1:
PF105134=EPL1=PU(4.4=38.9)
A:
NO
C2:
PF105134=EPL1=PU(11.1=58.6)


Main Inclusion Isoform:
ENST00000226319fB17856


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCCTGCTGTTTCCCGG
R:
TCTGAAGGCTTTCGATCTTCATGT
Band lengths:
162-289
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains