HsaEX0059828 @ hg38
Exon Skipping
Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74241994-74248486:-
Coord C1 exon
chr2:74248353-74248486
Coord A exon
chr2:74247036-74247307
Coord C2 exon
chr2:74241994-74242052
Length
272 bp
Sequences
Splice sites
3' ss Seq
ACCTCCCCTCTGCCTTCCAGAGG
3' ss Score
9.11
5' ss Seq
CAGGTGACC
5' ss Score
6.54
Exon sequences
Seq C1 exon
GGAGTGATGGAGAGCTTCCTGGGCACTGCCATGGCTGGCTCCTTGTTCTGCCTCTTCTCGGGACAGCCTCTCATCATTCTCAGCAGCACGGGGCCCATCCTCATCTTTGAGAAGCTCCTCTTCGACTTCAGCAA
Seq A exon
AGGCAATGGCCTGGACTACATGGAGTTCCGCCTCTGGATTGGCCTACACTCAGCTGTCCAGTGCCTTATCCTAGTGGCCACAGATGCCAGCTTTATCATCAAATATATCACCCGCTTCACCGAGGAGGGCTTCTCCACCCTTATCAGCTTCATCTTCATCTACGATGCCATCAAGAAGATGATCGGTGCCTTCAAGTACTACCCTATCAATATGGACTTCAAGCCAAACTTCATCACTACCTACAAGTGCGAGTGTGTCGCCCCTGACACAG
Seq C2 exon
TGAATACAACCGTGTTCAATGCTTCAGCCCCATTGGCACCAGACACCAACGCTTCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687_MULTIEX2-1/2=C1-2
Average complexity
S*
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:
PF0095516=HCO3_cotransp=FE(15.2=100)
A:
PF0095516=HCO3_cotransp=FE(16.9=100)
C2:
PF0095516=HCO3_cotransp=FE(3.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGATGGAGAGCTTCCTGGG
R:
CAGAGAAGCGTTGGTGTCTGG
Band lengths:
191-463
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development