Special

HsaEX0046974 @ hg38

Exon Skipping

Gene
Description
jade family PHD finger 3 [Source:HGNC Symbol;Acc:HGNC:22982]
Coordinates
chrX:47024724-47033788:+
Coord C1 exon
chrX:47024724-47024914
Coord A exon
chrX:47027892-47028103
Coord C2 exon
chrX:47033621-47033788
Length
212 bp
Sequences
Splice sites
3' ss Seq
TTGTTTGTATTTCTGTGCAGGTT
3' ss Score
10.41
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
Exon sequences
Seq C1 exon
GATTATAGCTGAGAAGGTAAAGGACGTTCTGTTTATCCGACCCCGGAAGTATATTCACTGCTCCAGCCCAGACACCACAGAGCCTGGCTACATCAACATCATGGAGTTGGCAGCATCTGTTTGCCGCTATGACCTAGATGACATGGACATCTTCTGGCTTCAGGAACTCAATGAAGACCTTGCAGAAATGG
Seq A exon
GTTGTGGGCCAGTTGATGAGAATCTTATGGAAAAGACAGTAGAAGTCCTGGAACGCCATTGCCATGAAAATATGAACCATGCTATTGAGACAGAGGAAGGGCTAGGCATAGAGTATGATGAAGATGTGATCTGTGATGTGTGCCGGTCTCCAGACAGTGAAGAAGGGAATGATATGGTGTTCTGTGATAAGTGTAACGTCTGTGTGCATCAG
Seq C2 exon
GCCTGCTATGGCATCCTCAAGGTCCCAGAAGGCAGCTGGCTGTGTCGCTCCTGTGTCCTGGGCATTTATCCGCAATGTGTGTTATGTCCAAAGAAAGGTGGAGCCCTGAAGACCACCAAGACAGGGACTAAATGGGCTCATGTCAGCTGTGCCCTGTGGATCCCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102221_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.005 C2=0.000
Domain overlap (PFAM):

C1:
PF105134=EPL1=PD(17.6=90.5)
A:
PF105134=EPL1=PD(12.8=26.8),PF0013017=C1_1=PU(75.9=62.0),PF138311=PHD_2=PU(42.9=21.1)
C2:
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)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTTCTGTTTATCCGACCCCG
R:
AGTCCCTGTCTTGGTGGTCTT
Band lengths:
296-508
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