HsaEX0059210 @ 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
chr19:17486563-17486957
Coord C2 exon
chr19:17487460-17487529
Length
395 bp
Sequences
Splice sites
3' ss Seq
CCCTCCGTCCTCCCTCCCAGCGG
3' ss Score
10.18
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
Exon sequences
Seq C1 exon
GCGGCTCGCTGTAGAGGCGGGGGCGGTCGTGGGGCGGAGCGGGTCGTGGGGCGGGGCTGGAGCGGCCCGCGGCCTCAGCTCTCTCTGCTTCCCCAGGATGCGGGCTCCGGGTGCGGGCGCGGCCTCGGTGGTCTCGCTGGCGCTGTTGTGGCTGCTGGGGCTGCCGTGGACCTGGAGCGCGGCAGCGGCGCTCGGCGTGTACGTGGGCAGCGGCGGCTGGCGCTTCCTGCGCATCGTCTGCAAGACCGCGAGGCGAGACCTCTT
Seq A exon
CGGTCTCTCTGTGCTGATCCGCGTGCGCCTGGAGCTGCGGCGGCACCAGCGTGCCGGCCACACCATCCCGCGCATCTTTCAGGCGGTAGTGCAGCGACAGCCCGAGCGCCTGGCGCTGGTGGATGCCGGGACCGGCGAGTGCTGGACCTTTGCGCAGCTGGACGCCTACTCCAATGCGGTAGCCAACCTCTTCCGCCAGCTGGGCTTCGCGCCGGGCGACGTGGTGGCCATCTTCCTGGAGGGCCGGCCGGAGTTCGTGGGGCTGTGGCTGGGCCTGGCCAAGGCGGGCATGGAGGCCGCGCTGCTCAACGTGAACCTGCGGCGCGAGCCCCTGGCCTTCTGCCTGGGCACCTCGGGCGCTAAGGCCCTGATCTTTGGAGGAGAAATGGTGGCGG
Seq C2 exon
ATCGTCTTTTCTACATCTACACGTCGGGGACCACCGGGCTGCCCAAGGCTGCCATTGTCGTGCACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130304_MULTIEX1-2/8=C1-4
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=0.011 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0050123=AMP-binding=PU(24.4=79.7)
C2:
PF0050123=AMP-binding=FE(5.3=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCAGCTCTCTCTGCTTCCC
R:
CTGCTGTGCACGACAATGGC
Band lengths:
262-657
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