HsaEX6013994 @ hg38
Exon Skipping
Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74259588-74264299:-
Coord C1 exon
chr2:74264147-74264299
Coord A exon
chr2:74262137-74262232
Coord C2 exon
chr2:74259588-74259643
Length
96 bp
Sequences
Splice sites
3' ss Seq
CCTTCTGATTCTCCTCCCAGATC
3' ss Score
10.72
5' ss Seq
TGTGTGAGT
5' ss Score
5.84
Exon sequences
Seq C1 exon
ATGATGTCATTGAGAAGCAGATTGAGGATGGTCTCCTGCGGCCAGAGCTCCGGGAGAGGGTCAGTTACGTCCTCCTGAGGAGGCACCGCCACCAAACCAAGAAGCCCATCCACCGCTCCTTAGCTGACATTGGGAAGTCAGTCTCCACCACAA
Seq A exon
ATCGCAGTCCTGCCCGGAGCCCTGGTGCTGGCCCGAGTCTACACCACTCCACGGAAGACCTGCGGATGCGGCAGAGTGCAAATTACGGACGTCTGT
Seq C2 exon
GTCATGCCCAGAGCAGAAGCATGAATGACATTTCTCTCACCCCAAACACAGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687-'13-18,'13-17,14-18=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.313 A=0.697 C2=0.579
Domain overlap (PFAM):
C1:
PF075658=Band_3_cyto=FE(19.0=100)
A:
PF075658=Band_3_cyto=FE(11.9=100)
C2:
PF075658=Band_3_cyto=FE(6.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGAAGCAGATTGAGGATGGT
R:
ATTCATGCTTCTGCTCTGGGC
Band lengths:
169-265
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains