HsaEX0059859 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51469614-51474447:+
Coord C1 exon
chr12:51469614-51469788
Coord A exon
chr12:51470392-51470525
Coord C2 exon
chr12:51474342-51474447
Length
134 bp
Sequences
Splice sites
3' ss Seq
ATGACTTTTTTTCCTCTCAGAGT
3' ss Score
9.89
5' ss Seq
CAAGTAAGA
5' ss Score
7.61
Exon sequences
Seq C1 exon
GCTATTTGGGGGCTTGGTGCTGGACATCAAGCGGAAGGCCCCCTGGTACTGGAGCGACTACCGAGATGCACTCAGCTTACAGTGTTTGGCTTCCTTTCTGTTCCTGTACTGTGCCTGCATGTCACCTGTCATCACCTTTGGGGGACTGCTTGGAGAAGCCACTGAGGGACGCATA
Seq A exon
AGTGCAATTGAATCCTTGTTTGGAGCTTCCATGACTGGGATTGCTTATTCCTTGTTTGCGGGACAGGCTCTCACCATCCTGGGAAGTACTGGACCAGTGCTTGTGTTTGAAAAGATTTTGTTCAAATTCTGCAA
Seq C2 exon
CTGCAGGTGTACTCTGCCAGAGAATCCAAACAATCACACCCTCCAGTACTGGAAGGACCACAACATCGTGACAGCAGAAGTCCACTGGGCTAACCTGACTGTCAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX1-1/4=C1-3
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.006 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(11.3=100)
A:
PF0095516=HCO3_cotransp=FE(13.8=100)
C2:
PF0095516=HCO3_cotransp=PD(19.3=79.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTATTTGGGGGCTTGGTGCTG
R:
TCTGCTGTCACGATGTTGTGG
Band lengths:
252-386
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