HsaEX0059206 @ hg38
Exon Skipping
Gene
ENSG00000130304 | SLC27A1
Description
solute carrier family 27 member 1 [Source:HGNC Symbol;Acc:HGNC:10995]
Coordinates
chr19:17500712-17506168:+
Coord C1 exon
chr19:17500712-17500876
Coord A exon
chr19:17501273-17501419
Coord C2 exon
chr19:17504455-17506168
Length
147 bp
Sequences
Splice sites
3' ss Seq
AGCTGAGCCTCTGCCTCCAGGAG
3' ss Score
5.16
5' ss Seq
CAGGTGCGA
5' ss Score
7.75
Exon sequences
Seq C1 exon
GTGACGTGCTAGTGATGGATGAGCTGGGCTACATGTACTTCCGGGACCGTAGCGGGGACACCTTCCGCTGGCGAGGGGAGAACGTCTCCACCACCGAGGTGGAGGGCGTGCTGAGCCGCCTGCTGGGCCAGACAGACGTGGCCGTCTATGGGGTGGCTGTTCCAG
Seq A exon
GAGTGGAGGGTAAGGCAGGGATGGCGGCCGTCGCAGACCCCCACAGCCTGCTGGACCCCAACGCGATATACCAGGAGCTGCAGAAGGTGCTGGCACCCTATGCCCGGCCCATCTTCCTGCGCCTCCTGCCCCAGGTGGACACCACAG
Seq C2 exon
GCACCTTCAAGATCCAGAAGACGAGGCTGCAGCGAGAGGGCTTTGACCCACGCCAGACCTCAGACCGGCTCTTCTTCCTGGACCTGAAGCAGGGCCACTACCTGCCCTTAAATGAGGCAGTCTACACTCGCATCTGCTCGGGCGCCTTCGCCCTCTGAAGCTGTTCCTCTACTGGCCACAAACTCTGGGCCTGGTGGGAGAGGCCAGCTTGAGCCAGACAGCGCTGCCCAGGGGTGGCCGCCTAGTACACACCCACCTGGCCGAGCTGTACCTGGCACGGCCCATCCTGGACTGAGAAACTGGAACCTCAGAGGAACCCGTGCCTCTCTGCTGCCTTGGTGCCCCTGTGTCTGCCTCCTCTCCCTGCTTTTCAGCCTCTGTCTCCTTCCATCCCTGTCCCTGTCTGGCCTTAACTCTTCCCTCTTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTAAGATAGAGTCTCACTCTGCTGCCCGGGCTAGAGTGCAGTGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130304-'38-38,'38-34,40-38
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.027 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=PD(5.5=42.9),PF131931=AMP-binding_C=PU(30.3=41.1)
A:
PF131931=AMP-binding_C=FE(64.5=100)
C2:
PF131931=AMP-binding_C=PD(3.9=5.7)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATGGATGAGCTGGGCTACA
R:
CCTGCTTCAGGTCCAGGAAGA
Band lengths:
246-393
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