Special

HsaEX0059211 @ hg38

Exon Skipping

Gene
ENSG00000130304 | SLC27A1
Description
solute carrier family 27 member 1 [Source:HGNC Symbol;Acc:HGNC:10995]
Coordinates
chr19:17470444-17487529:+
Coord C1 exon
chr19:17470444-17470707
Coord A exon
chr19:17487174-17487335
Coord C2 exon
chr19:17487460-17487529
Length
162 bp
Sequences
Splice sites
3' ss Seq
CCATGTGTTGGGGACCACAGCGG
3' ss Score
1.77
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
Exon sequences
Seq C1 exon
GCGGCTCGCTGTAGAGGCGGGGGCGGTCGTGGGGCGGAGCGGGTCGTGGGGCGGGGCTGGAGCGGCCCGCGGCCTCAGCTCTCTCTGCTTCCCCAGGATGCGGGCTCCGGGTGCGGGCGCGGCCTCGGTGGTCTCGCTGGCGCTGTTGTGGCTGCTGGGGCTGCCGTGGACCTGGAGCGCGGCAGCGGCGCTCGGCGTGTACGTGGGCAGCGGCGGCTGGCGCTTCCTGCGCATCGTCTGCAAGACCGCGAGGCGAGACCTCTT
Seq A exon
CGGTGGCCGAAGTGAGCGGGCATCTGGGGAAAAGTTTGATCAAGTTCTGCTCTGGAGACTTGGGGCCCGAGGGCATCTTGCCGGACACCCACCTCCTGGACCCGCTGCTGAAGGAGGCCTCTACTGCCCCCTTGGCACAGATCCCCAGCAAGGGCATGGACG
Seq C2 exon
ATCGTCTTTTCTACATCTACACGTCGGGGACCACCGGGCTGCCCAAGGCTGCCATTGTCGTGCACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130304_MULTIEX1-3/8=C1-4
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.013 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0050123=AMP-binding=FE(12.4=100)
C2:
PF0050123=AMP-binding=FE(5.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:


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:
TCTCTCTGCTTCCCCAGGATG
R:
ACGACAATGGCAGCCTTGG
Band lengths:
246-408
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