Special

HsaEX6093833 @ hg38

Exon Skipping

Gene
ENSG00000130304 | SLC27A1
Description
solute carrier family 27 member 1 [Source:HGNC Symbol;Acc:HGNC:10995]
Coordinates
chr19:17470444-17497464:+
Coord C1 exon
chr19:17470444-17470707
Coord A exon
chr19:17487460-17487529
Coord C2 exon
chr19:17497255-17497464
Length
70 bp
Sequences
Splice sites
3' ss Seq
AACACCTGTATCTCCTGCAGATC
3' ss Score
10.64
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GCGGCTCGCTGTAGAGGCGGGGGCGGTCGTGGGGCGGAGCGGGTCGTGGGGCGGGGCTGGAGCGGCCCGCGGCCTCAGCTCTCTCTGCTTCCCCAGGATGCGGGCTCCGGGTGCGGGCGCGGCCTCGGTGGTCTCGCTGGCGCTGTTGTGGCTGCTGGGGCTGCCGTGGACCTGGAGCGCGGCAGCGGCGCTCGGCGTGTACGTGGGCAGCGGCGGCTGGCGCTTCCTGCGCATCGTCTGCAAGACCGCGAGGCGAGACCTCTT
Seq A exon
ATCGTCTTTTCTACATCTACACGTCGGGGACCACCGGGCTGCCCAAGGCTGCCATTGTCGTGCACAGCAG
Seq C2 exon
GTGGTTCAGTACATCGGGGAGATCTGCCGCTACCTGCTGAAGCAGCCGGTGCGCGAGGCGGAGAGGCGACACCGCGTGCGCCTGGCGGTGGGGAACGGGCTGCGTCCTGCCATCTGGGAGGAGTTCACGGAGCGCTTCGGCGTACGCCAAATCGGGGAGTTCTACGGCGCCACCGAGTGCAACTGCAGCATTGCCAACATGGACGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130304_MULTIEX1-4/8=C1-8
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
NO
A:
PF0050123=AMP-binding=FE(5.3=100)
C2:
PF0050123=AMP-binding=FE(15.9=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:
GCTTCCTGCGCATCGTCTG
R:
CTCCGTGAACTCCTCCCAGAT
Band lengths:
175-245
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains